Incidental Mutation 'R0759:Cxcl16'
| ID |
70013 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cxcl16
|
| Ensembl Gene |
ENSMUSG00000018920 |
| Gene Name |
C-X-C motif chemokine ligand 16 |
| Synonyms |
SR-PSOX/CXCL16, Scavenger Receptor, 0910001K24Rik, SR-PSOX |
| MMRRC Submission |
038939-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R0759 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70345215-70350810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70349954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 24
(C24Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133513
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019064]
[ENSMUST00000039093]
[ENSMUST00000092958]
[ENSMUST00000108563]
[ENSMUST00000126105]
[ENSMUST00000126391]
[ENSMUST00000147289]
|
| AlphaFold |
Q8BSU2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000019064
AA Change: C37Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000019064
Gene: ENSMUSG00000018920
AA Change: C37Y
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Blast:SCY
|
32 |
94 |
1e-17 |
BLAST |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039093
|
| SMART Domains |
Protein: ENSMUSP00000048816
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
186 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
307 |
353 |
6.7e-12 |
PFAM |
|
low complexity region
|
438 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
523 |
535 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
736 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092958
|
| SMART Domains |
Protein: ENSMUSP00000090635
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
164 |
186 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
306 |
352 |
6.5e-11 |
PFAM |
|
low complexity region
|
437 |
451 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
662 |
696 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108563
|
| SMART Domains |
Protein: ENSMUSP00000104203
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
35 |
57 |
N/A |
INTRINSIC |
|
Pfam:zf-MYND
|
177 |
223 |
2.5e-11 |
PFAM |
|
low complexity region
|
308 |
322 |
N/A |
INTRINSIC |
|
low complexity region
|
393 |
405 |
N/A |
INTRINSIC |
|
low complexity region
|
572 |
606 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126105
|
| SMART Domains |
Protein: ENSMUSP00000134599
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
71 |
85 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126391
AA Change: C24Y
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000133513
Gene: ENSMUSG00000018920
AA Change: C24Y
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:SCY
|
19 |
81 |
3e-18 |
BLAST |
|
transmembrane domain
|
188 |
210 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136029
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154475
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147289
|
| SMART Domains |
Protein: ENSMUSP00000136813
Gene: ENSMUSG00000040829
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
40 |
54 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit decreased NK T cells, decreased secretion and serum levels of IL4 and IFN-gamma, and decreased inhibition of B16 melanoma cell growth by alpha-galactosylceramide treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,384,454 (GRCm39) |
F504I |
possibly damaging |
Het |
| Amdhd2 |
C |
A |
17: 24,380,587 (GRCm39) |
C119F |
probably benign |
Het |
| Arhgef18 |
T |
G |
8: 3,438,822 (GRCm39) |
|
probably benign |
Het |
| Bsph2 |
A |
T |
7: 13,290,652 (GRCm39) |
Y76N |
probably damaging |
Het |
| C1s1 |
T |
C |
6: 124,508,396 (GRCm39) |
N531S |
probably damaging |
Het |
| Ces1c |
G |
A |
8: 93,857,492 (GRCm39) |
Q30* |
probably null |
Het |
| Cltc |
A |
C |
11: 86,627,908 (GRCm39) |
I80S |
probably null |
Het |
| Colec11 |
A |
G |
12: 28,644,730 (GRCm39) |
S249P |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,707,066 (GRCm39) |
I348V |
probably damaging |
Het |
| Elavl1 |
C |
A |
8: 4,339,815 (GRCm39) |
D256Y |
probably damaging |
Het |
| Fubp1 |
TGGCGGCGGCGGCGGCGG |
TGGCGGCGGCGGCGGCGGCGG |
3: 151,916,274 (GRCm39) |
|
probably benign |
Het |
| Gm43434 |
T |
G |
14: 54,382,952 (GRCm39) |
|
probably benign |
Het |
| Il1a |
T |
A |
2: 129,146,607 (GRCm39) |
D162V |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,745,162 (GRCm39) |
Y1227H |
possibly damaging |
Het |
| Myb |
C |
T |
10: 21,020,927 (GRCm39) |
V501I |
probably benign |
Het |
| Nav1 |
A |
G |
1: 135,382,998 (GRCm39) |
I1238T |
possibly damaging |
Het |
| Nr0b2 |
A |
T |
4: 133,281,049 (GRCm39) |
Q105L |
probably damaging |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Pdilt |
A |
T |
7: 119,088,707 (GRCm39) |
Y431* |
probably null |
Het |
| Plg |
A |
G |
17: 12,629,838 (GRCm39) |
H624R |
probably damaging |
Het |
| Ppl |
A |
G |
16: 4,907,641 (GRCm39) |
S885P |
probably benign |
Het |
| Ptdss1 |
T |
C |
13: 67,135,868 (GRCm39) |
L375P |
probably damaging |
Het |
| Rrm1 |
A |
G |
7: 102,106,768 (GRCm39) |
D347G |
probably benign |
Het |
| Sbf1 |
A |
T |
15: 89,188,919 (GRCm39) |
V573E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,714 (GRCm39) |
I400N |
probably damaging |
Het |
| Slurp1 |
A |
G |
15: 74,598,808 (GRCm39) |
F61S |
probably damaging |
Het |
| Smpd3 |
T |
C |
8: 106,991,860 (GRCm39) |
E231G |
probably benign |
Het |
| Sned1 |
C |
T |
1: 93,200,286 (GRCm39) |
T564M |
probably damaging |
Het |
| Tril |
G |
T |
6: 53,795,012 (GRCm39) |
R737S |
probably damaging |
Het |
| Trim35 |
T |
A |
14: 66,546,236 (GRCm39) |
D334E |
probably benign |
Het |
| Trp53i11 |
A |
G |
2: 93,029,303 (GRCm39) |
T101A |
possibly damaging |
Het |
| Usp9y |
T |
C |
Y: 1,299,097 (GRCm39) |
N2514D |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,475,124 (GRCm39) |
Y634N |
probably damaging |
Het |
| Zftraf1 |
A |
G |
15: 76,530,385 (GRCm39) |
*312Q |
probably null |
Het |
|
| Other mutations in Cxcl16 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02211:Cxcl16
|
APN |
11 |
70,346,858 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL02867:Cxcl16
|
APN |
11 |
70,349,892 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
PIT4472001:Cxcl16
|
UTSW |
11 |
70,349,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Cxcl16
|
UTSW |
11 |
70,349,596 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0415:Cxcl16
|
UTSW |
11 |
70,349,574 (GRCm39) |
nonsense |
probably null |
|
|
R0732:Cxcl16
|
UTSW |
11 |
70,346,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4359:Cxcl16
|
UTSW |
11 |
70,349,631 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R4609:Cxcl16
|
UTSW |
11 |
70,346,255 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4903:Cxcl16
|
UTSW |
11 |
70,346,519 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4964:Cxcl16
|
UTSW |
11 |
70,346,519 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5724:Cxcl16
|
UTSW |
11 |
70,349,990 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7427:Cxcl16
|
UTSW |
11 |
70,349,630 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8518:Cxcl16
|
UTSW |
11 |
70,346,510 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1088:Cxcl16
|
UTSW |
11 |
70,346,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCTTTTGGACTGCAACTGGAAC -3'
(R):5'- ATTAAGAACGCAGCCCAGAGCTATC -3'
Sequencing Primer
(F):5'- CCTCATTCCAAAGGTGTGAAGTC -3'
(R):5'- AGAGCTATCCAGGGCTGC -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation